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Somatic SF3B1 Mutation in Myelodysplasia with Ring...
Journal article

Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts

Abstract

BACKGROUND: Myelodysplastic syndromes are a diverse and common group of chronic hematologic cancers. The identification of new genetic lesions could facilitate new diagnostic and therapeutic strategies. METHODS: We used massively parallel sequencing technology to identify somatically acquired point mutations across all protein-coding exons in the genome in 9 patients with low-grade myelodysplasia. Targeted resequencing of the gene encoding RNA …

Authors

Papaemmanuil E; Cazzola M; Boultwood J; Malcovati L; Vyas P; Bowen D; Pellagatti A; Wainscoat JS; Hellstrom-Lindberg E; Gambacorti-Passerini C

Journal

The New England Journal of Medicine, Vol. 365, No. 15, pp. 1384–1395

Publisher

Massachusetts Medical Society

Publication Date

October 13, 2011

DOI

10.1056/nejmoa1103283

ISSN

0028-4793